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Genomic science is, and has been, driven by technological advances that have increased our ability to examine and analyze genomic variation. In turn, bioethical issues have been shaped by these advances and the data they yield and by underlying aspirations, research strategies, translation, and application activities. This research paper will focus on the ethical, legal, and social issues (ELSI) of the development of genomics-based technologies and their application to human health and disease.
While genetics refers to the study of genes and their roles in inheritance, genomics, a more recent term, refers to the study of an organism’s entire complement of genes and how they interact with each other and the environment. It is a ﬁeld that has grown very rapidly especially during and after the completion of the Human Genome Project (HGP), a major international sequencing effort that was compared in magnitude to the effort to get humans to the moon. In addition to the human genome, the genomes of many organisms, both animal and plant, have been sequenced and studied both for fundamental scientiﬁc insights and for potential applications. Much of today’s life sciences are predicated on genomics, and several related ﬁelds like proteomics have been energized by the HGP.
From its roots in the molecular biology laboratories of the United States (US) and the United Kingdom (UK) in the 1970s, this ﬁeld has expanded to a global scale. Many countries have developed national policies that seek to capture the economic value of genomics and have invested in building capacity and research infrastructure. Research and development (R&D) in genomics is being pursued across all domains that involve the harnessing of life processes – from medicine, health, agriculture, and food production to energy generation and environmental remediation.
Genomic science is, and has been, driven by technological advances that have increased our ability to examine and analyze genomic variation. In turn, bioethical issues have been shaped by these advances and the data they yield and by underlying aspirations, research strategies, translation, and application activities. This research paper will focus on the ethical, legal, and social issues (ELSI) of the development of genomics-based technologies and their application to human health and disease. In Canada ELSI was expanded to “genomics and its ethical, environmental, economic, and legal issues” (GE3LS).
For convenience the term “bioethics” will be used here to refer to the above in general. The entry highlights key established and evolving debates and related controversies that have arisen in the research and in the translation/application of genomics technologies – an area in which much of the deliberation has concentrated.
History And Development
Genomics has become part of “big science,” coinciding with a time when large-scale partnerships between governments and private industry increasingly became the norm. Thus, in many respects, both scientiﬁc and commercial interests have inﬂuenced the development of genomics. The advance of the ﬁeld has been rapid. Following the elucidation of the structure of DNA by Watson, Crick, and Franklin in the 1950s, the early 1970s brought the development of fundamental tools to examine individual genes, leading to a radical leap in the scale and resolution of genomic analysis. Sequencing, in which the precise order of the base pairs comprising DNA is determined, has become the foundational activity of all genomic work. Early approaches were time-consuming, laborious, and technically challenging, limiting activity to very small genomes and single-gene analyses. However, subsequent innovations, including recombinant DNA technology, PCR, increasingly automated sequencing, and signiﬁcantly greater computing and storage capacity, enabled the advance to large and complex whole genomes.
The Human Genome Project (HGP) is the best known and largest of the many projects which have sequenced and mapped genomes over the last two decades or so. The HGP marked the beginning of a new era of genomics research at scale. It marked a shift from small-scale studies in disparate labs to high-throughput international collaborations involving teams of multidisciplinary experts. Supported by institutions, scientists, and public funding from around the world, but largely from the United States, it began in 1990 with the goal of providing a complete human genome reference: the ﬁrst good draft of this was published and celebrated in 2003. Soon after its launch, numerous other ambitious projects began to sequence key model organisms like Escherichia coli, Saccharomyces cerevisiae, Caenorhabditis elegans, and the mouse.
A groundbreaking aspect of the HGP was its commitment to make the generated data immediately, freely, and publicly accessible. Though hotly debated throughout project, newly generated sequence was placed in an open-access reference library every 24 h – a policy calculated to allow maximal sharing and stimulation of innovation and consequently the greatest public good. The imperative was based on the conviction of stakeholders, though not all, that the human genome represents the common heritage of all humanity, belonging at once to everyone and no one.
Leading genomics scientists developed explicit policies to secure a scientiﬁc commons and “freedom to operate” in genomics, The Bermuda Accord of 1996. An outcry against attempts to patent human genomic information by a private company, Celera Genomics, which was founded in 1988, helped ground the principle that this basic scientiﬁc knowledge should be freely available to all. Support for sharing has since expanded beyond genomic sequence to other biological samples and datasets, contributing to the expansion of an international open science movement (e.g., The Toronto Statement on Prepublication data-sharing and US NIH data-sharing policies). To date, numerous consortia have formed to tackle large-scale research goals, wherein the results are organized as public scientiﬁc resources.
The HGP also inaugurated ethical and societal impact research. From the planning stages it was recognized that genomic knowledge would have profound consequences for individuals and society and that examination of these ethical, legal, and social issues (ELSI) should be an integral component of the HGP. The ELSI program has been ongoing since 1990, and it remains one of the largest publicly funded bioethics initiatives to date.
The HGP ELSI Program has inspired similar initiatives across Europe (ELSA genomics – ethical, legal, and social aspects of genomics research), Canada (GE3LS – genomics and its ethical, environmental, economic, legal, and social aspects), and Asia. Research generated through these and related endeavors have contributed, in very large part, to bioethical perspectives presented in this research paper.
The whole of the HGP, including the development of new sequencing technologies to obtain the human reference sequence, cost around 3 billion US dollars and took 13 years to complete, making whole-genome sequencing initially impractical for widespread research or clinical use. However, technological developments in the mid-1990s, including DNA microarrays, enabled fast, cheaper analysis of DNA from large populations and a concomitant research shift from monogenic Mendelian to complex traits, allowing also for cataloging of genomic variation across control populations. An early and important exemplar was the International HapMap Project launched in 2002. Mapping genetic structure across multiple global populations of varying geographical ancestry, it provided critical baseline resources for the thousands of genome-wide association studies (GWAS) carried out from 2005 onwards. At the same time, with a view to securing the economic and health beneﬁts associated with building genomic knowledge as well as mapping human diversity and history, large-scale genotyping initiatives were launched in many developed, developing, and emerging economies. Another example of aiming to catalog of human populations was the much more ethically contentious Human Genomic Diversity Project (HGDP) (see Genomic Research section below).
2007 marked an inﬂection point in the genomics ﬁeld, with publication of the ﬁrst publicly identiﬁed individual human genome sequences, those of DNA pioneers Craig Venter and James Watson. Unlike the HGP reference sequence, which represented a composite of several anonymous DNA donors, these two provided a starting point for individual comparisons, provoking a surge of media hype and public expectation around “personalized genomics.” Very high throughput methods in the form of nextgeneration sequencers (NGS) entered the market in 2007 also, reﬂecting strong driving forces to make sequencing more accessible. From multimillion dollar prizes and grants to the promise of a large untapped market, the race to innovation resulted in a dramatic acceleration of sequencing technologies to the point where it is now possible to sequence an individual’s whole genome in a matter of days, purportedly for around the much-publicized goal of US$1,000. To date, more than 220,000 human genomes have been sequenced, with some projecting completion of up to ﬁve million by 2020. While sequencers are more concentrated in high income, northern nations, they are not limited to these settings. Projects such as the Human Health and Heredity in Africa (H3) consortium and Kenya’s International Livestock Research Institute (ILRI) are two examples of initiatives that aim to build genomics capacity and knowledge in developing countries and incorporate strategic north–south collaboration. On a much larger scale, China’s BGI (formerly the Beijing Genomics Institute) is one of the largest sequencing centers in the world. The falling cost of sequencing has enabled an explosion of diverse sequencing projects. To date, the genomes of thousands of plant, animal, and microorganism species have been sequenced, and in some cases multiple individuals of the species in question, with economic or health importance guiding many of the selections. However, while large quantities of sequence data are now easily generated and accessible, decoding their biological signiﬁcance is a signiﬁcant bottleneck and limit to beneﬁcial application.
Currently, genomic data is maintained in various kinds of discrete repositories – in the case of human data these are often called biobanks or population databases – and can include associated clinical, environmental, and lifestyle information. However, making the link between genomic variation and phenotype requires the study of large numbers of individuals, with some data banks like the UK Biobank having half a million or more participants. The need to achieve these sample sizes, promote validation of ﬁndings, and maximize the value of genomic investment has pushed current and ongoing efforts to establish new models and infrastructure for systematic and large-scale global data sharing, for example, Public Population Project in Genomics and Society (P3G).
A Shifting Context For Ethical Issues
Ethical issues raised in the context of genomics have much in common with issues in genetics. For example, classical concerns about protection of privacy include the potential for revealing disease or carrier status, the likelihood of future illness, either its presence or absence in a research cohort or ancestry group, or relatedness such as paternity or nonpaternity. Thus, breaches of conﬁdentiality through third-party access to this information raise the risk of discrimination and stigmatization. Likewise, revealing inadvertently discovered ﬁndings in research or even clinical investigation to research participants or patients might unnecessarily cause anxiety, particularly when the ﬁndings cannot help in terms of immediate therapeutic beneﬁts – in which case such revelation can do more harm than good and might even transgress individual autonomy. While this has always been a concern in the context of genetic research and clinical analyses, the information now yielded from high-resolution whole-genome analysis is vastly more revelatory and broad in scope. For example, in the near future variants inﬂuencing almost all carrier statuses, current and future onset disease risks, behavioral traits, and intelligence may easily be revealed. In addition, the inherent complexity of this genome data and the current uncertainty about much of its biological meaning intensify the classical ethical issues raised by genetics.
An interesting development is that in the last two decades we have seen signiﬁcant changes in the types and methodologies of genomics research, such that we are expanding the traditional bioethical focus on individual autonomy to include considerations of the collective good (Knoppers 2005). Some population-level genomics research is now large in scale, multidisciplinarian, and collaborative, often carried out across geographical, cultural, socioeconomic, and political boundaries. Of course, discussion on how best to balance private and public interests is an ongoing debate, and classical bioethical issues such as informed consent, ownership, intellectual property, and beneﬁt sharing may be exacerbated in this context. The following section will review these debates and how the concerns and solutions are evolving.
The general ﬁeld of research ethics primarily aims to understand the particulars so as to provide guidance on how to maximize beneﬁts while minimizing harms arising from that and similar research. Perhaps because of how humans value themselves within the biological realm, a large part of the bioethical literature in genomics focuses on the potential harms of human genomics research. It can be argued that the physical risk incurred by participating in genomic research is minimal, constituting merely a blood draw or a cheek swab. Instead it is the informational harms that are the main focus of bioethical debates (Boddington 2012). These include the collection and storage of individual and population-wide genomic (samples and) data and subsequent concerns regarding knowledge generation and use, privacy, ownership, patents, and beneﬁt sharing. Other controversies, albeit not discussed in this research paper, include concerns about threats to species integrity posed by genetic engineering (to learn more, see Genetically Modiﬁed Organisms (GMOs): Humans and Genetically Modiﬁed Organisms (GMOs) – Animals) and fears about targeted bio-warfare raised by genomic proﬁling of population groups.
Increasingly genomic sequences are compiled in large databases, linked to additional health and demographic information, and accessed and utilized by a growing number of researchers who rarely, if ever, interact with the research participants who contribute samples and data to the collection. For this reason, many of the traditional protections provided through research ethics, such as informed consent, are inadequate or difﬁcult to implement to address bioethical concerns that arise in genomic research. Informed consent is based on respect for persons and the principle of autonomy. Thus, traditionally, research participants would consent to the use of their DNA, perhaps in return for information about how their samples and data would be used, protection from potential breaches of privacy through the provision of anonymity, and the opportunity to withdraw from the study at any point. The virtual and long-term nature of genomic databases, however, introduces a number of new research opportunities, not the least of which are remote data access, long-term storage, and ongoing use of the data for studies not yet known or conceived. These activities may stretch the capacity of the “informed” nature of consent in genomic research. Traditionally, to meet the requirements of informed consent, each time samples or data are accessed for a new study, the researcher would need to approach participants and obtain consent providing details of the proposed new research. Otherwise, data may be accessed and utilized by researchers in other countries and/or jurisdictions unknown to the participants and may be used in studies with very different goals from those original intended and for which consent was obtained. Some form of broader consent of participants in such foreseen instances may allow for extended use. These broader permissions, however, may not capture unforeseen informational harms. At issue is whether we are lowering traditional research protections for individuals in favor of the potentially larger public beneﬁts to be gained thorough research. This then raises the question of what constitutes “public beneﬁt” and what risks must we be exposed to in order to achieve it. Another proposal, with perhaps more traction, is to construct informed consent as an ongoing relationship or partnership between the researcher and participant given the unpredictable nature of genomics research (Kaye 2012). For example, interactive Web-based interfaces can enable research participants to review research proposals and provide consent for the use of their data over time, thus developing an ongoing relationship, or partnership, with researchers throughout the lifetime of the database (Kaye 2012). Challenges may arise, however, as to what might be done with an individual’s data should they lose their capacity to consent or where they simply lose interest and don’t bother to respond to online requests from the researchers.
These approaches do not, however, resolve the issue of assuring participants of complete anonymity and privacy when they participate in genomic research. Beyond the intrinsic reasons for protecting genomic privacy, there are also instrumental reasons. Large-scale genomic research is largely dependent on altruistic participation, a behavior contingent upon trust between parties. Moreover, as the trend is increasingly to study healthy populations over long durations, there is even more of a need to inspire public trust to ensure continued participation, as well as funding. Yet, in 2004 researchers demonstrated that with access to only 75 SNPs, they were able to identify an individual (Lin et al. 2004). This effort, along with many others, illustrates how difﬁcult it is, and will increasingly be so, for researchers to assure participants that they can provide anonymity and protect their privacy. Completely open consent frameworks, such as that piloted in the Personal Genome Project, acknowledge these concerns aiming to evolve research ethics in parallel with the science. The general statement that in today’s age, “privacy is dead” in the context of the Internet – especially in social media – cannot be adopted lightly in genomics research.
It is of course fair to question whether it is indeed necessary to guarantee anonymity and privacy in the case of genomics research. Much of the debate comes down to the normative approach to genomic data – is it similar to other forms of data (e.g., health or medical information) or ought it instead be distinguished from other forms of data? This distinction is sometimes referred to as “genetic exceptionalism” and raises important concerns as to why one would accord special status to genetic information. Genealogical information is generally available through libraries and public archives, medical records are held in databases and ﬁles by the medical community, and governments manage statistical databases, containing various personal data. Those who do accord special status to genetic information have raised concerns regarding historical misuse of genetic information (e.g., eugenic programs) and the unique aspects of genetic information (for instance, children inherit 50 % of each of their parents DNA) from which potential duties may arise, such as familial obligations as well as the community and population character of the information (e.g., ancestry, migration, and disease groups). Indeed, there is a potential risk of discrimination. For instance in the UK, under certain circumstances, insurance underwriters can request genetic test results for Huntington’s disease. There exist various protective measures and approaches, which have been enacted in an effort to mitigate the concerns associated with the challenge of privacy and protection of genomic data. It can be coded or anonymized in a variety of ways, most of which are not foolproof. In some instances, national legislation has been enacted to mitigate the concerns of limited privacy, such as the Genetic Information Nondisclosure Act (GINA) in the United States and the Human Genes Research Act HGRA in Estonia. However, their long-term impact is yet to be determined. Getting this wrong could have life and death implications, e.g., in obtaining medical insurance.
Genomics research may give rise to other types of unpredictable harms for human groups and populations, as well as individuals. Concerns about the effect of genomic research and the resulting knowledge on “racial” discrimination have been intensiﬁed by genomics endeavors, as research participants and their samples are most often identiﬁed by socially visible labels such as geographical origin, ethnicity, ancestry, or “race.” Notably, the use of population labels with their inherent social resonance has re-ignited concerns that this work will contribute to scientiﬁc racism that has been persistent and recurring since eugenic initiatives of the early twentieth century. As such, there is a risk that conceptions of “race,” as well as other social or economic categories, may be reiterated and reiﬁed through the research, interpretation, and translation of genomic ﬁndings. Further, when population-based studies uncover disease associations, there is a risk that these “disease genes” will be associated with the population and the phenotype attributed to the group in question.
Large-scale population genomic research may also raise sociocultural or religious concerns for research participants. Some ﬁndings may threaten established spiritual or cultural traditions, political or legal status, or self-identity by challenging existing methods of determining group membership or traditional stories of groups’ cultural origins.
The important role that familial role, ancestry, ethnic identity, and community membership play in social and economic standing renders these risks pernicious and far reaching. The notion of seeking “group consent” in addition to individual consent has been broached as one solution to begin to address such concerns. However, fundamental difﬁculties, including distinguishing group membership or culturally appropriate authorities from whom consent should be sought, challenge these approaches. Less stringent approaches in the same spirit are community consultation and engagement initiatives. As such, publicly funded projects such as HapMap, the HGP, and others have devoted signiﬁcant funds to engagement and education to explore, address, and mitigate potential harms.
Some minority and historically disenfranchised groups retain persistent mistrust in genomics research due to past and recent research ethics abuses (see the above Boxes 3 and 4). However, as highlighted by the controversy over BiDil, there exists a tension between the wish to redress inequities in treatment and access and fears of exploitation or misuse of genomic information. Thus, incomplete or absent genomic knowledge on certain populations may result in exacerbating health disparities and creating a Genomics Divide, wherein genomics-based health-care innovations are limited to privileged or “rich country” populations. For example, most currently available diagnostic microarrays focus on genotypes more common in populations of Northern European or “white” ancestry, because of the paucity of GWAS that has been conducted in other, particularly African, populations.
Ownership, Patents, And Benefit Sharing
To date thousands of patents on genetic sequences of human, animals, plants, and microorganisms have been granted by patent ofﬁces worldwide. For the most part, international and national laws do not recognize any property rights in human tissues, extracts, or genetic material after removal from the body. Yet, as of the controversial ruling in Diamond v. Chakrabarty, it has been possible to obtain patents on isolated DNA sequences in the United States and elsewhere, as these were considered puriﬁed and thus rendered patentable through this human intervention until 2013. Key concerns raised by the patenting of genetic material are best reﬂected in a recent and controversial case in the US courts regarding a series of patents on breast cancer genes BRCA1 and 2 ﬁled by Myriad Genetics.
Much genomic research is publicly funded. Thus, the Myriad case, as well as other similar instances (Bovenberg 2005), demonstrate that we struggle inherently with whether inventions derived from genetic material should be patentable, whether DNA donors have control or at the very least a legitimate interest over research decisions with respect to their genomic data, whether they ought to receive some type of beneﬁt for their contribution, and, ﬁnally, how to best ensure public access to products and services derived from such research (Bovenberg 2005). The notion of beneﬁt sharing has arisen, in large part as an effort to address these concerns. However, what a beneﬁt constitutes and how such beneﬁts should be apportioned continue to be unclear in practice.
One form of potential beneﬁt sharing that has been gaining increasing support is the notion that genomic researchers ought to be required to return results or incidental ﬁndings to donors (e.g., argued by the American College of Medical Genetics (ACMG) and P3G). However, ethical quandaries arise due to the broad gamut of potentially transmissible information, current uncertainty of the signiﬁcance of the majority of variants, and the fact that ﬁndings identiﬁed in the research setting are not validated to clinical standards. Some recent guidelines (e.g., ACMG) point to the ethical and practical sense in limiting return of results to only those that are clinically actionable. The return of incidental ﬁndings remains controversial, but has gained support as genomic knowledge accrues and increases the likelihood of identifying meaningful ﬁndings.
On the other hand, genomic data derived from other nonhuman organisms, such as plants, animals, and microorganisms, is commonly accessed by and shared among researchers in public databases on a global scale. Further, intellectual property can also be pursued; for instance, microorganism strains can be isolated and patented, after which the strains must be deposited in a certiﬁed, publicly accessible culture database as per the Budapest Treaty, for example, the American Type Culture Collection. Yet, controversies and concerns remain regarding access to the beneﬁts of nonhuman genomic research. In 2007, the Indonesian government declined to share their avian ﬂu virus samples and associated data with the international community as it argued that the research outputs, in this case a vaccine, would not be accessible to their population. In making their claim, the Indonesian government cited the Convention on Biological Diversity (CBD), a multilateral governance mechanism implemented to ensure the fair and equitable sharing of the beneﬁts arising out of the utilization of genetic resources. Although highly criticized, it did have the desired effect, and in 2011, the WHO reached an agreement that ensured an equitable distribution of beneﬁts as part of the Pandemic Inﬂuenza Preparedness (PIP) Framework.
Genomic Translation And Applications
Today, genomics is improving our understanding of common complex diseases while also opening up the potential for genetic engineering and synthetic biology with applications in the ﬁelds of medicine, agriculture, and environment. The challenges and slow progress in interpreting the signiﬁcance of genomic data are perhaps most apparent in the realm of human health where genomic medicine, through prevention, diagnostics, and therapeutics were already expected to have made signiﬁcant contributions to healthcare in the ﬁelds of personalized, precision medicine and public health genomics. Instead, so far the translation of genomic research to clinical applications on a large scale has yet to meet early expectations. For this reason, a more general concern in the translation of genomic ﬁndings to the public is the issue of hype through the popular media. It has been noted that the nuance and precision of research ﬁndings are often “lost in translation,” leading to misleading reporting and exaggerated expectations of the beneﬁts of genomics. Resulting potential harms include oversimpliﬁed understandings of the contribution of genetics to a behavioral or disease outcome – often called “genetic determinism,” “racialized” understandings – and weakened public trust in genomics leading to decreased funding and research participation. The linkage of population groups to genetic risk factors and group- based therapies has been very controversial (e.g, Box 5: BiDil).
Beyond the hype, however, evidence of recent contributions has started to accumulate. Nextgeneration molecular diagnostics including microarrays and whole-genome or exome analysis are being used to screen prenates and neonates to identify etiology for constitutional and unexplained rare disorders. Clinical applications also include earlier diagnosis of some diseases, including some cancers and heart disease, targeted therapies, enhanced drug safety, and optimized dosage. Despite these advances, there remain numerous technical and socio-ethical challenges associated with translating genomic research advances through applications in the health system. These include, but are not limited to, safety, efﬁcacy, and validity of the diagnostics, management and reporting of incidental ﬁndings, and the limited availability of trained medical personnel able to facilitate adoption in the clinic (e.g., genetic counselors and trained clinicians). Outside the health system, direct-to-consumer (DTC) genomics ﬁrms have been providing paying customers with genomic information for nearly a decade. Beyond genomic medicine, the translation of genomic research into other ﬁelds has sometimes been met with strong public opposition, as is the case with agricultural biotechnology, speciﬁcally genetically modiﬁed crops and animals. In this section on genomic translation and application, several examples will be used to illustrate some of the key bioethical concerns that have arisen in the application and translation of genomic information in human health.
Direct-To-Consumer Genomic Testing
Early on in the genomic revolution, direct-to-consumer genomic testing (DTC GT) raced onto the scene, targeting individual consumers with the opportunity to unlock the mysteries contained in their genome for a price. DTC GT companies provide various types of services, including whole-genome analyses, which are often referred to as “personalized genomics.” The ease with which a consumer can access DTC GT services, along with their current weak regulation, raises several concerns. DTC GT companies have claimed that the information reported is recreational rather than medical in nature such that they can avoid the need to undergo costly regulatory approval processes. Nevertheless, many of them provide information to customers on various disease risks, most often returning results without the support of a trained health professional. Further, DTC GT services base much of their complex disease susceptibility information on probabilities with limited clinical validity and utility. Thus, there is a real risk of harm to DTC GT consumers who, in the absence of any counseling, may become distressed upon receiving their results, particularly if the results indicate a high relative risk of early onset for a degenerative disease with no known intervention. For these reasons, several countries in Europe, for example, have attempted to limit the operations of DTC GT companies and even legally ban them (e.g., Germany). There have been similar efforts by the US FDA to limit their operations as well. However, in 2015, the US FDA permitted marketing of the ﬁrst direct-to-consumer genetic carrier test for Bloom syndrome. It has been argued, in defense of DTC GT services, that individual consumers, as autonomous agents, have a right to their genetic information, particularly in situations where they perceive it to be their choice (Vayena 2015). Although this may be the truth, we should consider the possibility that the resulting harms may limit and potentially outweigh this individual right. First, genomic information almost always has implications beyond the consumer, to family, and society, and to date there are no real mechanisms to address these implications and their possible consequences. Second, given the complexity of the results, individuals may need to follow up with a physician, placing additional burdens on the health-care system.
It should also not go unnoticed that DTC GT companies are commercial enterprises developing and maintaining large research repositories containing their consumers’ genomic and oftentimes related information (Howard et al. 2010). Thus, some DTC GT companies, such as 23andMe, also generate research and provide access to their databases to third parties. In these instances, consumers are also research participants, raising the potential for a blurring of the lines (Howard et al. 2010) and a potential lack of consumer awareness of how their data is being employed in various research activities. Traditional research ethics protections, such as informed consent processes, can be diluted in these instances, even when companies operate relatively transparently with their consumers, an effect that arises due to the conﬂict inherent between acting as a consumer and as a research participant (Howard et al. 2010).
Much of the discourse on genomic medicine has focused on the potential for personalized medicine. However, in recent years, the capacity for genomics to contribute to public health has garnered signiﬁcant attention. Newborn and prenatal screening technologies were among the earliest applications of genomic research into the clinic, and in some countries (e.g., the United States, Canada, Australia, and the United Kingdom), these programs are integrated through the public health system to enable prevention or treatment of genetic disease in newborns and assist families when making reproductive choices. However, the number of diseases that can be tested for is increasing every year, raising the question as to what information, and under whose authority, ought public health systems employ to select the conditions for which they test. At the root of many of the criticisms of these programs is the concern of how we conceptualize and act on disease. Consider, for example, whether it is always right to terminate pregnancy when the fetus has trisomy 21 (Down’s syndrome). In addition, in the face of changing technologies, we need to consider carefully whether and under what circumstances parents ought to consent to the generation and analysis of the genetic data of their infants (Dondorp et al. 2012). Next-generation sequencing technologies, for example, are now commercially available in many countries across the globe; these tools can be used to screen whole genomes or whole exomes of prenates and newborns, generating large reams of data, some of which may indicate the onset of disease at a much later date or provide diagnoses for which there are no existing interventions. The ability to provide NGS technologies at a low cost may result in their integration into public health care sooner rather than later. If this were to happen, we will need to deliberate carefully on how to handle these novel concerns regarding choices about which information, including incidental ﬁndings, ought to be communicated to the parents and whether the right not to know for infants can be defended and under what circumstances.
Infectious Disease Epidemiology And Genomics
Infectious disease and epidemics can be managed through the application of genomic science. Through an improved understanding of the host–pathogen relationship, we may be better able to diagnose microbial infections, map transmission patterns and drug resistance, develop new therapeutics and vaccines, and improve their effectiveness (Geller et al. 2014). Ethical concerns associated with this application of public health genomics include limitations to privacy, autonomy, and choice. Although these concerns are familiar across the scope of practice in genomics, unique aspects arise largely due to the nature of public health and one in which broader threats to the public can take precedence over individual rights. It is in this context, for instance, that mandatory screening of individuals to determine initial sources of infection known as “superspreaders” and those at a higher risk of contracting the disease may potentially violate autonomy and privacy and/or stigmatize individuals. In the near term, mandates for quarantine may be based on individual genotypes, depending upon susceptibility to the disease or the capacity to be a super spreader. Additional ethical concerns include the potential for an imbalance between health-related beneﬁts and harm to individuals and patients; the social and behavioral impact of genomic information on individuals, family members, and others; and the equitable distribution of scarce resources.
While the ﬁeld of genomics has matured very rapidly, consensus on the many issues arising from research and applications is forming gradually. New issues will arise: consider the recent capabilities we have developed for gene editing. These powerful technologies have spread very rapidly and will continue to do so. This technology and its reagents are now easily available commercially, at a time when guidelines and ethical considerations of their applications on humans have not yet been thought through. The recent announcement by Chinese scientists that they had edited human genomes caused wide consternation not least because of their demonstration that the editing was not as targeted as the technology would imply. There is a move by scientists now to establish an embargo, and the National Institutes for Health in the United States recently announced that it would not fund gene editing on human embryos.
The fact that genomics now underlies much of “life sciences” means that applications in systems biology, synthetic biology, regenerative medicine, personalized medicine, public health initiatives, and many others will continue to raise many complex ethical, legal, and social issues, keeping interested scholars very busy for the foreseeable future. Hopefully these scholars will have the time to understand the science and technology, as well as the humility to engage the public.
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